Pyruvate carboxylase deficiency - Insights from liver transplantation

William L. Nyhan, Ajai Khanna, Bruce A. Barshop, Robert K. Naviaux, Andrew F. Precht, Joel E. Lavine, Marquis A. Hart, Bryan Hainline, Rebecca S. Wappner, Sharon Nichols, Richard H. Haas

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Pyruvate carboxylase deficiency, complex form, presents in early infancy with lethal metabolic acidosis, resulting from ketoacidosis and lactic acidemia. Renal tubular acidosis, hyperammonemia, and citrullinemia complete the picture. In an infant with this disease, large amounts of glucose ameliorated the ketoacidosis, but worsened the lactic acidosis. Orthotopic hepatic transplantation completely reversed the ketoacidosis and the renal tubular abnormality and ameliorated the lactic acidemia. Concentrations of glutamine in cerebrospinal fluid were low and did not improve with liver transplantation.

Original languageEnglish
Pages (from-to)143-149
Number of pages7
JournalMolecular Genetics and Metabolism
Volume77
Issue number1-2
DOIs
StatePublished - 2002

Fingerprint

Pyruvate Carboxylase Deficiency Disease
Pyruvate Carboxylase
Ketosis
Liver
Liver Transplantation
Milk
Citrullinemia
Renal Tubular Acidosis
Cerebrospinal fluid
Hyperammonemia
Lactic Acidosis
Acidosis
Glutamine
Cerebrospinal Fluid
Kidney
Glucose

Keywords

  • Ketoacidosis
  • Lactic acidemia
  • Liver transplantation
  • Pyruvate carboxylase

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Endocrinology, Diabetes and Metabolism

Cite this

Nyhan, W. L., Khanna, A., Barshop, B. A., Naviaux, R. K., Precht, A. F., Lavine, J. E., ... Haas, R. H. (2002). Pyruvate carboxylase deficiency - Insights from liver transplantation. Molecular Genetics and Metabolism, 77(1-2), 143-149. https://doi.org/10.1016/S1096-7192(02)00123-3

Pyruvate carboxylase deficiency - Insights from liver transplantation. / Nyhan, William L.; Khanna, Ajai; Barshop, Bruce A.; Naviaux, Robert K.; Precht, Andrew F.; Lavine, Joel E.; Hart, Marquis A.; Hainline, Bryan; Wappner, Rebecca S.; Nichols, Sharon; Haas, Richard H.

In: Molecular Genetics and Metabolism, Vol. 77, No. 1-2, 2002, p. 143-149.

Research output: Contribution to journalArticle

Nyhan, WL, Khanna, A, Barshop, BA, Naviaux, RK, Precht, AF, Lavine, JE, Hart, MA, Hainline, B, Wappner, RS, Nichols, S & Haas, RH 2002, 'Pyruvate carboxylase deficiency - Insights from liver transplantation', Molecular Genetics and Metabolism, vol. 77, no. 1-2, pp. 143-149. https://doi.org/10.1016/S1096-7192(02)00123-3
Nyhan WL, Khanna A, Barshop BA, Naviaux RK, Precht AF, Lavine JE et al. Pyruvate carboxylase deficiency - Insights from liver transplantation. Molecular Genetics and Metabolism. 2002;77(1-2):143-149. https://doi.org/10.1016/S1096-7192(02)00123-3
Nyhan, William L. ; Khanna, Ajai ; Barshop, Bruce A. ; Naviaux, Robert K. ; Precht, Andrew F. ; Lavine, Joel E. ; Hart, Marquis A. ; Hainline, Bryan ; Wappner, Rebecca S. ; Nichols, Sharon ; Haas, Richard H. / Pyruvate carboxylase deficiency - Insights from liver transplantation. In: Molecular Genetics and Metabolism. 2002 ; Vol. 77, No. 1-2. pp. 143-149.
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